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1
Advanced Workshop on
Genomic Testing and
Genetic Counselling for
Hereditary Cancers
8, 15, 22 and 29 May 2021
Week 1 Sessions (8th May 2021)
Chairperson: Dr Stephen Tak Sum LAM
2
14:00 – 15:00Lecture 1 Introduction to hereditary cancer diseases
Dr Ivan Fai Man LO
15:00 – 15:10 Q&A
15:10 – 15:40 Tea break
15:40 – 16:40Lecture 2 Overview of hereditary cancer genetic testing
Dr Jeanette MCCARTHY
16:40 – 16:50 Q&A
16:50 – 17:50Lecture 3 Understanding genetic test reports
Dr Jeanette MCCARTHY
17:50 – 18:00 Q&A
3
Lecture 1 Introduction to hereditary cancer diseases (8 May 2021, 14:00 – 15:00)
Lecture Highlights
❖ Introduction to human genetics
❖ Overview of hereditary cancer diseases
❖ Common hereditary cancer patients’ characteristics
❖ Variability in clinical symptoms expression
❖ Hereditary cancer genetics, inheritance mode, predisposition and risk factors
❖ Review of cancer susceptibility genes, somatic and germline alterations
❖ Clinical symptoms & family history suitable for referral to genomic testing
❖ Informed consent in tests
Dr Ivan Fai Man LOMBChB, FHKCPaed, FHKAM(Paed)
Honorary Clinical Associate Professor, Departments of Paediatrics and
Obstetrics & Gynaecology, The Chinese University of Hong Kong
Dr Ivan FM Lo is Head of the Clinical Genetic Service of the Department of Health, a government
funded tertiary referral centre of clinical genetic service in Hong Kong for over 30 years. Dr Lo was
trained in genetics and genomics in the Clinical Genetic Service since 1991, and received training in
biochemical and molecular genetics at the University of British Columbia, Canada, in 1996. He also
received Paediatric training in Hong Kong and became a Fellow of the Hong Kong College of
Paediatricians in 1998. He is in-charge of the overall supervision of genetic counselling service,
laboratory genetic service and newborn screening programme since 2015. He is also Honorary
Clinical Associate Professor of the Department of Paediatrics & Adolescent Medicine of both medical
schools in Hong Kong, and Chairman of the Genetics & Genomics (Paediatrics) subspecialty board
under the Hong Kong College of Paediatricians. Dr Lo’s special interests include dysmorphology,
neurogenetics, molecular genetics and application of next generation sequencing technology. He has
more than 100 publications in international peer reviewed medical/genetic/genomic journals.
4
Lecture 2 Overview of hereditary cancer genetic testing (8 May 2021, 15:40 – 16:40)
Lecture Highlights
❖ Pedigree analysis and hereditary risk assessment
❖ Factors to consider when selecting hereditary cancer genetic tests
❖ Variety of hereditary cancer genetic tests
❖ Genetic counselling prior to testing
❖ Genomic test results analysis and disclosure
❖ Family members hereditary risk evaluation
Dr Jeanette MCCARTHY
MPH, PhD
Founder, Precision Medicine Advisors
Adjunct Associate Professor, Community and Family Medicine, Duke University
Adjunct Associate Professor, Department of Medicine, University of California,
San Francisco
Dr Jeanette McCarthy is a UC Berkeley trained genetic epidemiologist and spent the early part of her
career in industry at Millennium Pharmaceuticals before transitioning to academia. She currently
holds adjunct faculty positions at Duke University and UCSF. Her previous research had focused on
the genetic underpinnings of complex diseases, both infectious and chronic. More recently, she has
become a leading educator in the field of genomic and precision medicine involved in demystifying
genomics for non-technical audiences, including health care providers, patients and other
stakeholders. In 2014 she helped launch the first consumer-facing magazine in this field, Genome,
where she served as editor-in-chief until 2016. She teaches genomic and precision medicine through
UCSF and UC Berkeley Extension and online through the Precision Medicine Academy
(precisionmedicineacademy.org). She also designs and delivers custom workshops and courses to
international audiences and advises companies on strategic and technical aspects of precision
medicine.
5
Lecture 3 Understanding genetic test reports (8 May 2021, 16:50 – 17:50)
Lecture Highlights
❖ Lab selection, pathogenicity of variants and test report interpretation
❖ Case studies for hereditary cancer genetic testing
❖ Examples on hereditary breast, ovarian, colorectal, prostate and pancreatic
cancers
❖ Possible problems that may encounter in practice
Dr Jeanette MCCARTHY
MPH, PhD
Founder, Precision Medicine Advisors
Adjunct Associate Professor, Community and Family Medicine, Duke University
Adjunct Associate Professor, Department of Medicine, University of California,
San Francisco
Dr Jeanette McCarthy is a UC Berkeley trained genetic epidemiologist and spent the early part of her
career in industry at Millennium Pharmaceuticals before transitioning to academia. She currently
holds adjunct faculty positions at Duke University and UCSF. Her previous research had focused on
the genetic underpinnings of complex diseases, both infectious and chronic. More recently, she has
become a leading educator in the field of genomic and precision medicine involved in demystifying
genomics for non-technical audiences, including health care providers, patients and other
stakeholders. In 2014 she helped launch the first consumer-facing magazine in this field, Genome,
where she served as editor-in-chief until 2016. She teaches genomic and precision medicine through
UCSF and UC Berkeley Extension and online through the Precision Medicine Academy
(precisionmedicineacademy.org). She also designs and delivers custom workshops and courses to
international audiences and advises companies on strategic and technical aspects of precision
medicine.
Week 2 Sessions (15th May 2021)
Chairperson: Professor Ava KWONG
Chairperson: Professor Roger Kai Cheong NGAN
6
14:00 – 14:40Lecture 4 Hereditary breast cancer & genetic counselling
Professor D. Gareth EVANS
14:40 – 14:50 Q&A
14:50 – 15:30
Lecture 5 Clinical management of hereditary breast cancer
from a surgeon’s view
Professor Ava KWONG
15:30 – 15:40 Q&A
15:40 – 16:20
Lecture 6 Precision oncology medicines in hereditary breast
cancer
Professor Roger Kai Cheong NGAN
16:20 – 16:30 Q&A
16:30 – 16:40 Tea Break
16:40 – 17:20Lecture 7 Hereditary ovarian cancer & genetic counselling
Professor D. Gareth EVANS
17:20 – 17:30 Q&A
17:30 – 18:10Lecture 8 Clinical management of hereditary ovarian cancer
Professor Hextan Yuen Sheung NGAN
18:10 – 18:20 Q&A
7
Lecture 4 Hereditary breast cancer & genetic counselling (15 May 2021, 14:00 – 14:40)
Lecture Highlights
❖ Signs and symptoms of hereditary breast cancer patients
❖ Common mutations in hereditary breast cancer (e.g. BRCA1/2, PTEN, p53,
HRD genes)
❖ Individual risk assessment and referral criteria for hereditary breast cancer
testing
❖ Different genomic tests available for hereditary breast cancer
❖ Counselling advice for genomic testing in hereditary breast cancer
❖ Genetic counselling for hereditary breast cancer patients
Professor D. Gareth EVANSMB, BS, MD, FRCP, FLSW, FRCOG ad eundem
Professor of Medical Genetics and Cancer Epidemiology, The University of
Manchester
Professor Evans is professor of medical genetics and cancer epidemiology at university of
Manchester UK. He has established a national and international reputation in clinical and research
aspects of cancer genetics, particularly in neurofibromatosis and breast/colorectal cancer. He has
published 864 peer reviewed research publications; 305 as first or senior author (total publications
1015). He has an ISI web of knowledge H-index of 116 and google scholar of 152 having only
published his first article in 1990. In the last 8 years he has raised over £50 million in grants for
multicentre and local studies – approximately £42 million to Manchester. He is Chief Investigator on
two NIHR program grants (2009-2014-£1.59 million) (2017-2020-£1million) on breast cancer risk
prediction and also has an NIHR RfPB grant as CI (2011). He has supervised 14 successful doctoral
theses and is currently supervising five. He has led a successful bid for a Nationally funded NF2
service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service. He
is overall cancer lead (3 themes) and Cancer Prevention Early detection theme lead on the
successful all Manchester NIHR Biomedical research centre bid (2017-2022-£28.5million). He is lead
clinician on the NICE familial breast cancer guideline group and until recently a trustee of Breast
Cancer Now and the Neuro Foundation. He is on the editorial board of JNCI and several other
journals. He is the recipient of a number of awards including the Theodor Schwann, von
Recklinghausen and Sir Patrick Forrest prize twice.
8
Lecture 5 Clinical management of hereditary breast
cancer from a surgeon’s view (15 May 2021, 14:50 – 15:30)
Lecture Highlights
❖ Hereditary breast cancer prevalence in Hong Kong and South East Asia
❖ Management and recommendations for mutation carriers:
❖ Breast self-examination
❖ Annual screening
❖ Chemoprevention
❖ Prophylactic measures
❖ Risk reducing mastectomy
❖ Psychosocial support
❖ Testing in carrier’s children
❖ Conventional clinical management for breast cancer patients
Professor Ava KWONGMBBS, BSc, PhD, FRCS, FRCSEd, FCSHK, FHKAM(Surgery)
Daniel C K Yu Professor in Breast Cancer Research
Clinical Professor and Chief of Division of Breast Surgery, The University of
Hong Kong
Professor Kwong is Daniel C K Yu Professor in Breast Cancer Research and Clinical Professor at
The University of Hong Kong, Chief of Division of Breast Surgery at Queen Mary Hospital, Tung Wah
Hospital and The University of Hong Kong-Shenzhen Hospital. In 2007, she founded and is
Chairman of the Hong Kong Hereditary Breast Cancer Family Registry. In 2012, she was appointed
as the co-leader of the Cancer Work Group in the development of Cancer Services planning of the
Hong Kong West Cluster. In 2013, she was elected to be the Deputy Chief and Committee Member
of the Shenzhen Breast and Endocrine Cancer Society, China. She has been appointed to be a
member of the Cancer Coordinating Committee of the Food and Health Bureau, the Government of
the HKSAR since 2014. She is also currently a member of several committees including Consortium
on Harmonization of Institutional Requirements for Clinical Research (CHAIR) and Central
Committee on Cancer Service of Hospital Authority, Expert Advisory Panel (Cancer) of Health and
Medical Research Fund (HMRF) of Food and Health Bureau, the Government of the HKSAR.
Professor Kwong’s research interests focus on breast and ovarian cancer genetics, advanced
surgical technologies, epidemiology, psychosocial and clinical trials in oncological treatment. She
has gained multiple awards in various local and international meetings including the “Uccio Querci
della Rovere Award” of The Royal College of Surgeons of England in 2019, “Young Investigator
Awards” of Hong Kong international Cancer Congress in 2006 and 2008.
9
Lecture 6 Precision oncology medicines in hereditary
breast cancer(15 May 2021, 15:40 – 16:20)
Lecture Highlights
❖ Somatic genomic test interpretation
❖ Effect of genomic test results on breast cancer treatment
❖ Targeted therapeutic drugs
❖ HER2 antibodies
❖ Tyrosine kinase inhibitors
❖ PIK3K inhibitor
❖ CDK inhibitors
❖ mTOR inhibitors
❖ Emerging new therapeutic measures in breast cancer patients
Professor Roger Kai Cheong NGANMBBS (HK), LRCP (Lond), MRCS (Eng), DMRT (UK), FFRRCS(I), FRCR,
FHKCR, FHKAM (Radiology)
Clinical Professor, Department of Clinical Oncology, The University of Hong
Kong
Professor Roger Ngan is currently Clinical Professor in the Department of Clinical Oncology of the
University of Hong Kong, and is the Chief of Specialty in Oncology at Gleneagles Hospital Hong
Kong. He is also an honorary consultant in the Departments of Clinical Oncology of both Queen Mary
Hospital and Queen Elizabeth Hospital, and in the Department of Surgery of Kwong Wah Hospital of
Hong Kong. Prof Ngan is a specialist in clinical oncology practicing in Hong Kong who has a special
interest in the clinical research of multimodality management of breast cancers, head and neck
cancers, gynecological cancers, soft tissue sarcomas and brachytherapy. He has published more
than 130 articles in peer-reviewed journals and book chapters. Prof Ngan has worked as the Director
of the Hong Kong Cancer Registry from 2012 to 2018, and the Chief of Service of Department of
Clinical Oncology, Queen Elizabeth Hospital from 2013 to 2018. He is the immediate past President
of the Hong Kong Breast Oncology Group, and deputy Chief Editor of the Hong Kong Journal of
Radiology.
10
Lecture 7 Hereditary ovarian cancer & genetic counselling (15 May 2021, 16:40 – 17:20)
Lecture Highlights
❖ Signs and symptoms of hereditary ovarian cancer patients
❖ Common mutations in hereditary ovarian cancer
❖ BRCA1/2, LGRs
❖ MLH1, MSH2, MSH6
❖ PMS2, STK11
❖ Selected HRD genes
❖ Shared risks associated with hereditary breast cancer
❖ Referral criteria for genomic testing in hereditary ovarian cancer
❖ Counselling advice for genomic testing in hereditary ovarian cancer
❖ Genetic counselling for hereditary ovarian cancer patients
Professor D. Gareth EVANSMB, BS, MD, FRCP, FLSW, FRCOG ad eundem
Professor of Medical Genetics and Cancer Epidemiology, The University of
Manchester
Professor Evans is professor of medical genetics and cancer epidemiology at university of
Manchester UK. He has established a national and international reputation in clinical and research
aspects of cancer genetics, particularly in neurofibromatosis and breast/colorectal cancer. He has
published 864 peer reviewed research publications; 305 as first or senior author (total publications
1015). He has an ISI web of knowledge H-index of 116 and google scholar of 152 having only
published his first article in 1990. In the last 8 years he has raised over £50 million in grants for
multicentre and local studies – approximately £42 million to Manchester. He is Chief Investigator on
two NIHR program grants (2009-2014-£1.59 million) (2017-2020-£1million) on breast cancer risk
prediction and also has an NIHR RfPB grant as CI (2011). He has supervised 14 successful doctoral
theses and is currently supervising five. He has led a successful bid for a Nationally funded NF2
service (£7.5 million pa) that started in 2010 and is involved in the national complex NF1 service. He
is overall cancer lead (3 themes) and Cancer Prevention Early detection theme lead on the
successful all Manchester NIHR Biomedical research centre bid (2017-2022-£28.5million). He is lead
clinician on the NICE familial breast cancer guideline group and until recently a trustee of Breast
Cancer Now and the Neuro Foundation. He is on the editorial board of JNCI and several other
journals. He is the recipient of a number of awards including the Theodor Schwann, von
Recklinghausen and Sir Patrick Forrest prize twice.
11
Lecture 8 Clinical management of hereditary ovarian
cancer (15 May 2021, 17:30 – 18:10)
Lecture Highlights
❖ Management and recommendations for carriers to reduce risks:
❖ Clinical abdominal exams
❖ Oophorectomy or fallopian tube removal
❖ Oral contraceptive use
❖ Transvaginal ultrasound or endometrial biopsy
❖ CA-125 blood levels
❖ Hysterectomy
❖ Other associated risks that can be modified
❖ Conventional clinical management of ovarian cancer patients
❖ Emerging new therapeutic measures in ovarian cancer patients
Professor Hextan Yuen Sheung NGANMBBS, MD(HK), FRCOG, FHKCOG, FHKAM (O&G); Cert RCOG (Gynae Onc);
Accredited gynaecological oncologist (UK and HK); Accredited colposcopist
(HKCOG/HKSCCP, HK)
Tsao Yin-Kai Professor in Obstetrics & Gynaecology
Professor, Chair of Obstetrics & Gynaecology, The University of Hong Kong
Head of Department of Obstetrics & Gynaecology, The University of Hong Kong
Professor Hextan Ngan graduated in the University of Hong Kong in 1978. She obtained MRCOG in
1983 and MD in 1995. She has been a gynaecological oncologist accredited by the Royal College of
Obstetricians and Gynaecologists (RCOG) since 1993, and has vast experience in open, laparoscopic
and robot-assisted cancer surgery. She has got more than 300 publications in peer-reviewed journals.
Her research interest is in biomolecular studies, cancer screening, clinical trials and psychosocial
studies in gynaecological oncology. Prof Ngan is the past president of the Hong Kong College of
Obstetricians and Gynaecologists (HKCOG), past president of the Asia Oceania Research
Organization of Genital Infections & Neoplasia (AOGIN), past Chair of the FIGO Gynecology Oncology
Committee, and currently the President of the Family Planning Association of Hong Kong. She is now
the Head of Department of Obstetrics & Gynaecology, the University of Hong Kong, and has been
endowed with Tsao Yin-Kai Professorship in Obstetrics and Gynaecology in 2009. Prof Ngan is also
the head of the gynaecological oncology team and laboratory of the University of Hong Kong, the Chief
of Service in Obstetrics & Gynaecology of the University of Hong Kong-Shenzhen Hospital, and the
Chair of Specialty (“COS”) for Obstetrics & Gynaecology, Gleneagles Hong Kong Hospital Limited.
Week 3 Sessions (22nd May 2021)
Chairperson: Dr Ka On LAM
Chairperson: Dr Chi Leung CHIANG
Chairperson: Professor Anthony Chi Fai NG
12
14:00 – 14:45Lecture 9 Hereditary colorectal cancer & genetic counselling
Professor Siu Tsan YUEN
14:45 – 14:55 Q&A
14:55 – 15:40
Lecture 10 Clinical management of hereditary colorectal
cancer
Dr Dominic Chi Chung FOO
15:40 – 15:50 Q&A
15:50 – 16:10 Tea Break
16:10 – 16:55
Lecture 11 Pancreatic cancer – clinical management and
hereditary susceptibility
Professor David WHITCOMB
16:55 – 17:05 Q&A
17:05 – 17:50
Lecture 12 Prostate cancer: The genetics of disease risk and
management
Professor Leonard GOMELLA
17:50 – 18:00 Q&A
13
Lecture 9 Hereditary colorectal cancer & genetic
counselling (22 May 2021, 14:00 – 14:45)
Lecture Highlights
❖ Clinical presentation and genetic cause
❖ Hereditary colorectal cancer subtypes & characteristics
❖ Autosomal dominant inheritance
❖ Family history
❖ Referral criteria for genomic tests
❖ Amsterdam criteria
❖ Bethesda criteria
❖ MSI & IHC screening
❖ Counselling advice for genomic testing in hereditary colorectal cancer
❖ Genetic counselling for hereditary colorectal cancer
Professor Siu Tsan YUEN MBBS(HK), MD(HK), FCSHK, FRCSEd, FRCPath(UK), FHKCPath, MIAC,
MRCPath(UK), FHKAM(Pathology)
Co-Director & Honorary Clinical Professor, Hereditary Gastrointestinal Cancer
Genetic diagnosis Laboratory, Department of Pathology, The University of Hong
Kong
Professor Siu Tsan Yuen is the Co-Director and Honorary Clinical Professor, Hereditary
Gastrointestinal Cancer Genetic diagnosis Laboratory, Department of Pathology, The University of
Hong Kong. He is the Founding Fellow, Faculty of Science, The Royal College of Pathologists of
Australasia, and the First Fellow in Genetic and Genomic Pathology, Hong Kong College of Pathologist.
Professor Yuen became a fellow of the Royal College of Surgeons of Edinburgh in 1989, a fellow of the
College of Surgeons of Hong Kong in 1991, and a fellow of the Hong Kong Academy of Medicine
(Pathology) in 1995. He is also the Honorary Professor of Beijing Army General Hospital in China and
the Medical Advisor of The Hong Kong Cancer Fund. He was appointed as the Consultant Pathologist
in the Department of Pathology of St. Paul’s Hospital in 2004 and the Deputy Medical Superintendent of
St. Paul’s Hospital in 2011. His main research interest is hereditary gastrointestinal (gastric, colorectal)
cancers and genetic diagnosis. He has more than 150 publications in peer-reviewed international
journals including Nature and Nature Genetics.
14
Lecture 10 Clinical management of hereditary colorectal
cancer (22 May 2021, 14:55 – 15:40)
Lecture Highlights
❖ Actionable lifestyle changes to reduce colorectal cancer risk
❖ Mutation carriers’ management
❖ Colonoscopy
❖ Endoscopic ultrasound
❖ Urinalysis
❖ Physical examination
❖ Prophylactic colectomy
❖ NSAIDs use in reducing CRC risk
❖ Associated cancer screening (e.g. endometrial & ovarian)
❖ Conventional clinical management
❖ Emerging new therapeutic measures
Dr Dominic Chi Chung FOOMBBS, FRCSEd, FCSHK, FHKAM(Surgery)
Clinical Assistant Professor, Department of Surgery, The University of Hong
Kong
Dr Dominic Chi Chung Foo is Clinical Assistant Professor in the Division of Colorectal Surgery of The
University of Hong Kong. He graduated from The University of Hong Kong with a Bachelor of Medicine
and Bachelor of Surgery degree in 2002. He undertook his surgical training in Queen Mary Hospital and
joined the Division of Colorectal Surgery in 2009. He became a specialist in general surgery, a fellow of
the Hong Kong Academy of Medicine (Surgery) and a fellow of the College of Surgeons of Hong Kong
in 2011 and a fellow of the Royal College of Surgeons of Edinburgh in 2012. His main interest is in the
field of minimally invasive colorectal surgery, in particular, rectal surgery. He has personally performed
over 100 robotic rectal surgeries. His publications, including book chapters and peer-reviewed articles,
focus on robotic rectal surgery, transanal surgery and single-incision colorectal surgery. Dr Foo’s active
involvement in various professional societies includes being a council member of the International
Society for Digestive Surgery – Asian Pacific, a member of the Simulation Working Group, Research
Committee, Examination Committee and Education Committee in the College of Surgeons of Hong
Kong.
15
Lecture 11 Pancreatic cancer – clinical management and
hereditary susceptibility (22 May 2021, 16:10 – 16:55)
Lecture Highlights
❖ Signs, symptoms and clinical presentation of hereditary pancreatic cancer
patients
❖ Hereditary inheritance
❖ PRSS1/TRY1, STK11/LKB1 and P16INK4a in pancreatic caner
❖ Risk association with other cancers
❖ Other associated disease: hereditary pancreatitis
❖ Conventional clinical management
❖ Emerging new therapeutic measures
Professor David WHITCOMBMD, PhD
Giant Eagle Foundation Professor of Cancer Genetics, The University of
Pittsburgh School of Medicine
Professor David C. Whitcomb is a pioneer in the use of mathematics, genetics, neurosciences,
immunology, epidemiology and clinical sciences to study complex inflammation disorders and cancer
risks of the digestive system, and he is among the most-cited authors in the field of pancreatic diseases
with multiple landmark papers. He co-founded the Center for Genomic Sciences at the University of
Pittsburgh (now part of the Genomics and Proteomics Core Laboratory), and served as Director of the
Nutrition Support Service and Director of Gastroenterology for the Pittsburgh VA Healthcare System.
He served as Chief, Division of Gastroenterology, Hepatology and Nutrition at the University of
Pittsburgh from 1999 to 2016, building it into a top-tier Gastroenterology program. With over 25 years of
continuous NIH funding, he served as principal investigator on multiple National Institutes of Health-
sponsored studies, building one of the top human genetics programs for complex digestive diseases.
He as published over 400 papers, reviews and book chapters with nearly 30,000 citations, and h-index
of ~ 85 and i10index of ~280. His research, education and organizational innovations in precision
medicine continue to be studied and emulated by other leading programs throughout the world.
16
Lecture 12 Prostate cancer: The genetics of disease risk
and management(22 May 2021, 17:05 – 17:50)
Lecture Highlights
❖ Signs and symptoms of hereditary prostate cancer
❖ Common mutations in hereditary prostate cancer
❖ BRCA1/2, ATM, RAD51, BRIP1, PABL2, CHEK2 & HOXB13 mutations
❖ Risk assessment and referral criteria for genomic testing
❖ Risk factors
❖ Factors that can be modified to reduce risks
❖ Surveillance in high-risk patients with guideline recommendations
❖ Conventional treatments
❖ Emerging new treatments
Professor Leonard GOMELLAMD, FACS
The Bernard W. Godwin, Jt. Professor of Prostate Cancer, Chairman,
Department of Urology, Thomas Jefferson University
Professor Leonard Gomella is the Bernard W. Godwin, Jr. Professor of Prostate Cancer and Chairman
of the Department of Urology at the Sidney Kimmel Medical College. Originally from New York,
Professor Gomella completed medical school, general surgery and urology training at the University of
Kentucky in Lexington. After a Urologic Oncology Fellowship in the Surgery Branch of the NCI in
Bethesda, Maryland, he joined the Jefferson faculty in 1988 and was appointed Chair in 2002. He
serves as Senior Director for Clinical Affairs for the Sidney Kimmel Cancer at Jefferson. From 2008 until
2019 he was Clinical Director of the Sidney Kimmel Cancer Center Network and from 1999-2020
Urology Chair for RTOG (now NRG). In 2019 Dr. Gomella was named Urology Service Line Director for
the entire Jefferson Health hospital system. Professor Gomella is involved in translational basic science
and clinical research developing new diagnostic tests and treatments for prostate, bladder and kidney
cancer through the Sidney Kimmel Cancer Center where he serves as the Co-Leader of the Biology of
Prostate Cancer Program. His team was first to use molecular techniques (RT-PCR) to detect
circulating prostate cancer micrometastasis (now called “circulating tumor cells”), a discovery that led to
a new field of investigation in this disease. He is also recognized as an early contributor to urologic
laparoscopy, starting Jefferson’s program in 1990. He led the Urology effort in the 2017 and 2019
Philadelphia Prostate Cancer Consensus that provided the first multidisciplinary guidance on the
genetic testing for prostate cancer. He has given over 600 presentations nationally and internationally
and written over 400 papers, chapters and monographs in the field of Urology.
Week 4 Sessions (29th May 2021)
Chairperson: Dr Joseph Siu Kie AU
Chairperson: Dr Shu Jen CHEN
Chairperson: Professor Anthony Chi Fai NG
17
14:00 – 15:00
Lecture 13 Clinical genomic tests for detecting cancer
susceptibility genes
Dr Shu Jen CHEN
15:00 – 15:10 Q&A
15:10 – 15:20 Tea Break
15:20 – 16:10
Lecture 14 Laboratory workflow in clinical genomic testing
by NGS
Dr Alfa BAI
16:10 – 16:20 Q&A
16:20 – 16:30 Intermission
16:30 – 17:50
Lecture 15 Interactive session in real life case sharing
Dr Stephen Tak Sum LAM, Mr Daniel C. SIU and Ms Maggie
LAW
17:50 – 18:00 Q&A
Course completed
18
Lecture 13 Clinical genomic tests for detecting cancer
susceptibility genes (29 May 2021, 14:00 – 15:00)
Lecture Highlights
❖ Principle & practical aspects in NGS tests
❖ Methodologies in hereditary cancer risk tests
❖ Analyses of SNV, Indel, CNV, LGR and MLPA in somatic and germline testing
❖ Bioinformative and pharma-bioinformative analysis
❖ Testing for BRCA1/2, HRD genes and genomic scars
❖ FDA, NCCN, AMP and ACMG guidelines in cancer risk tests
❖ Clinical interpretation of test results
❖ Different emphasis between somatic and germline tests
Dr Shu Jen CHENPhD
Chief Scientific Officer, ACT Genomics
Dr Shu-Jen Chen obtained her Ph.D. degree in Biochemistry from Virginia Commonwealth University,
USA. She received her postdoctoral training at Baylor College of Medicine and became a Research
Assistant Professor at SUNY Buffalo. She joined National Health Research Institute (NHRI) as an
Assistant Investigator and established the high throughput screening program for the institute. As one
of the founding scientists, Dr. Chen joined TaiGen Biotechnology in 2001 to lead the in vitro
pharmacology group. In 2006, she moved to Chang Gung University as an Associate Professor in the
Department of Biomedical Sciences. As a co-founder of ACT Genomics, Dr. Chen has served as the
Chief Scientific Officer since 2014. Dr. Chen specializes in automated drug screening system,
genomics and transcriptomics technologies, omics data analysis and biological database integration.
She is also familiar with cancer biology, system integration and database design. She currently leads
the sequencing group and the bioinformatics group at ACT Genomics to implement cancer genome
sequencing for research and clinical applications.
19
Lecture 14 Laboratory workflow in clinical genomic
testing by NGS (29 May 2021, 15:20 – 16:10)
Lecture Highlights
❖ NGS workflow in Ion torrent and Illumina platforms
❖ Quality assurance tests
❖ Requirement differences in somatic and germline testing
❖ Sample preparation for blood, saliva, buccal swab & tumour tissues
❖ The importance of tissue macro-dissection in somatic tests
❖ Library preparation and the importance in preventing cross-contamination in
NGS lab
❖ NGS test reporting
Dr Alfa BAIBSc, MPhil, Dr.rer.nat., MLT Part1
Laboratory Director, ACT Genomics
Dr Alfa Bai Hsing Chen is a registered medical laboratory technologist in Hong Kong. He finished the
professional training and obtained a Bachelor of Science degree in Medical Technology from Chang
Gung University, Taiwan in 1999. Dr Bai started his academic research career, which focused in cancer
genetics and epigenetics, in 2000; and he obtained a Master of Philosophy degree in Medical Sciences
from The Chinese University of Hong Kong and Doctor of Science degree (Doctor rerum naturalium)
from Ruprecht-Karls-Universtät Heidelberg, Germany in 2004 and 2011 respectively. Dr Bai published
twenty research papers in international peer-review journals namely, Nature Medicine and Gut, in his
research career.
20
Lecture 15 Interactive session in real life case sharing (29 May 2021, 16:30 – 17:50)
Lecture Highlights
❖ Case sharing of examples in hereditary cancer patients
Dr Stephen Tak Sum LAMMBBS (HK), DCH (Lond), MRCP (Irel), MRCP (UK), FRCP(Edin), MHA (New
South Wales), MD (HK), FHKCPaed, FHKAM (Paediatrics)
Director, Clinical Genetics Service, Honorary Consultant in Clinical Genetics,
Hong Kong Sanatorium & Hospital
Dr Stephen Lam is a Fellow of Hong Kong College of Paediatricians, Fellow of Royal College of
Physicians (Edinburgh), and Fellow of Hong Kong Academy of Medicine. He was the Consultant
Clinical Geneticist, and Head of Clinical Genetic Service, Department of Health, Hong Kong (1990-
2015). He is an Honorary Professor of the Faculty of Medicine in the Chinese University of Hong Kong
since 2012. He was the Past President of the Asia Pacific Society of Human Genetics (2011-12) and
the International Federation of Human Genetic Societies (2012-14). Since July 2016, he is the Director
of Clinical Genetics Service and Honorary Consultant in Clinical Genetics in the Hong Kong Sanatorium
and Hospital.
Mr Daniel C. SIUMS, MBA
CEO and Founder, Rainbow Genomics
Mr Daniel C. Siu received his B.S. in molecular biology from the University of Texas, Austin, his M.S. in
bioinorganic chemistry from the University of Minnesota, Minneapolis, and his MBA from San Francisco
State University. In 2011, Mr Siu co-founded US-based Axeq Technologies with the chairman of
Macrogen. He co-founded Nextcode Health in 2013, a US and Iceland-based clinical bioinformatics and
"big data" company. Mr Siu founded Rainbow Genomics in 2016, which provides clinical whole genome
and whole exome sequencing tests with unique methodologies for paediatric / adult rare disease and
germline cancer diagnosis.
Ms Maggie LAWBSc, MMS, MGC
Associate genetic counsellor, International Genetic Counselling Centre
Ms Law received both of her Bachelor of Science degree in Biotechnology, and her Master of Medical
Sciences in Pathology, from the University of Hong Kong. She also received her Master of Genetic
Counselling degree from the University of Technology Sydney. Ms Law received her clinical training at
Hong Kong Sanatorium & Hospital, Canberra Hospital and Prince of Wales Hospital in Australia.
• CME Point Allocation by the following colleges through Hong
Kong Academy of Medicine
• 14.5 CNE points from The Nursing Council of Hong Kong
• 12 CPD points from MLT Board (Activity Code: 05200611)
College
Maximum
point for
attending all
4 sessions
Session
point on
8 May 2021 (14:00 - 18:00)
Session
point on
15 May 2021 (14:00 - 18:00)
Session
point on
22 May 2021 (14:00 - 18:00)
Session
point on
29 May 2021 (14:00 - 18:00)
Hong Kong College of
Radiologists15.5 3.5 4.0 4.0 4.0
The Hong Kong
College of
Obstetricians and
Gynaecologists
10.0 3.0 4.0 3.0 3.0
Hong Kong College of
Physicians14.5 3.5 4.0 3.5 3.5
The College of
Surgeons of Hong
Kong
14.5 3.5 4.0 3.5 3.5
The Hong Kong
College of Pathologists15.5 3.5 4.0 4.0 4.0
Hong Kong College of
Paediatricians*10.0 N/A N/A N/A N/A
Hong Kong College of
Community Medicine10.0 3.0 4.0 3.0 3.0
The Hong Kong
College of Family
Physicians
10.0 3.0 3.0 3.0 3.0
Credits
21
* CME point is only given upon completion of the whole function (no session point given);
attendance of 80% is required in order to obtain 10 CME points.
Note: No CME/CNE/CPD point will be given for watching the lecture video recordings.
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